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CACNA1H Gene

protein-coding   GIFtS: 66
GCID: GC16P001203

Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit

  See CACNA1H-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium Channel, Voltage-Dependent, T Type, Alpha 1H Subunit1 2     Calcium Channel, Voltage-Dependent, T Type, Alpha 1Hb Subunit2
Low-Voltage-Activated Calcium Channel Alpha1 3.2 Subunit2 3     Low-Voltage-Activated Calcium Channel Alpha13.2 Subunit2
Voltage-Gated Calcium Channel Subunit Alpha Cav3.22 3     Voltage Dependent T-Type Calcium Channel Alpha-1H Subunit2
ECA62 5     Voltage-Dependent T-Type Calcium Channel Subunit Alpha-1H2
EIG62 5     Voltage-Gated Calcium Channel Alpha Subunit Cav3.22
CACNA1HB2     Voltage-Gated Calcium Channel Alpha Subunit CavT.22
Cav3.22     

External Ids:    HGNC: 13951   Entrez Gene: 89122   Ensembl: ENSG000001965577   OMIM: 6079045   UniProtKB: O951803   

Export aliases for CACNA1H gene to outside databases

Previous GC identifers: GC16P001220 GC16P001144 GC16P001146 GC16P001147


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CACNA1H Gene:
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium
channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and
consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit
has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple
isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative
splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been
characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood
absence epilepsy (CAE). (provided by RefSeq, Jul 2008)

GeneCards Summary for CACNA1H Gene:
CACNA1H (calcium channel, voltage-dependent, T type, alpha 1H subunit) is a protein-coding gene. Diseases associated with CACNA1H include epilepsy, childhood absence, susceptibility to, 6, and epilepsy, idiopathic generalized 6. GO annotations related to this gene include scaffold protein binding and low voltage-gated calcium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H
gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group
and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at
quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in
both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth
muscle. They may also be involved in the modulation of firing patterns of neurons which is important for
information processing as well as in cell growth processes

summary for CACNA1H Gene:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1H Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNA1H gene promoter:
         MAZR   Tal-1   Pax-5   NRSF form 1   RelA   NRSF form 2   Evi-1   E47   Roaz   FOXC1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1H promoter sequence
   Search Chromatin IP Primers for CACNA1H

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNA1H


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

CACNA1H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1H gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001203:  view genomic region     (about GC identifiers)

Start:
1,203,241 bp from pter      End:
1,271,772 bp from pter
Size:
68,532 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180 (See protein sequence)
Recommended Name: Voltage-dependent T-type calcium channel subunit alpha-1H  
Size: 2353 amino acids; 259163 Da
Sequence caution: Sequence=AAK61268.1; Type=Erroneous gene model prediction; Sequence=CAC42094.1; Type=Erroneous
gene model prediction;
Secondary accessions: B5ME00 F8WFD1 O95802 Q8WWI6 Q96QI6 Q96RZ9 Q9NYY4 Q9NYY5
Alternative splicing: 2 isoforms:  O95180-1   O95180-2   (Ref.4 (CAD12646) sequence is in conflict in position: 1587:K->E)

Explore the universe of human proteins at neXtProt for CACNA1H: NX_O95180

Explore proteomics data for CACNA1H at MOPED

Post-translational modifications: 

  • In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II1
  • Glycosylation2 at Asn192, Asn271, Asn1466
  • Modification sites at PhosphoSitePlus

  • See CACNA1H Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005407.1  NP_066921.2  

    ENSEMBL proteins: 
     ENSP00000334198   ENSP00000455840   ENSP00000457555   ENSP00000454990   ENSP00000454581  
     ENSP00000455512   ENSP00000351401  
    Reactome Protein details: O95180

    CACNA1H Human Recombinant Protein Products:

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    antibodies-online kits for CACNA1H (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav3.2
    Voltage-gated calcium channels

    3 InterPro protein domains:
     IPR005821 Ion_trans_dom
     IPR005445 VDCC_T_a1su
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry O95180

    ProtoNet protein and cluster: O95180

    1 Blocks protein domain: IPB005445 T-type voltage-dependent calcium channel alpha-1 subunit signature

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6)
    and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are
    characterized by a series of positively charged amino acids at every third position
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1H subfamily


    Find genes that share domains with CACNA1H           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1H_HUMAN, O95180
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
    also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
    neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1H
    gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group
    and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at
    quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in
    both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth
    muscle. They may also be involved in the modulation of firing patterns of neurons which is important for
    information processing as well as in cell growth processes

         Genatlas biochemistry entry for CACNA1H:
    calcium low voltage-activated (LVA) channel (VDCC),alpha 1H subunit,T (fast inactivation,small conductance)
    type,expressed in kidney,brain,heart

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005515protein binding ----
    GO:0008332low voltage-gated calcium channel activity IDA--
    GO:0046872metal ion binding IEA--
    GO:0097110scaffold protein binding IPI--
         
    Find genes that share ontologies with CACNA1H           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNA1H:
     Increased cell number in G2M,  

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cacna1h):
     cardiovascular system  growth/size/body  muscle  nervous system 

    Find genes that share phenotypes with CACNA1H           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacna1htm1Kcam for CACNA1H

       genOway: Develop your customized and physiologically relevant rodent model for CACNA1H

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    SwitchGear 3'UTR luciferase reporter plasmidCACNA1H 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAC1H_HUMAN, O95180: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    endoplasmic reticulum1
    extracellular1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0005901caveola IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA--
    GO:0042383sarcolemma IEA--

    Find genes that share ontologies with CACNA1H           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNA1H About   (see all 26)  
    See pathways by source

    SuperPathContained pathways About
    1TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    2DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    3Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.37
    4Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    5CREB Pathway
    CREB Pathway0.68
    Intracellular Calcium Signaling0.50
    IP3 Pathway0.68


    Find genes that share SuperPaths with CACNA1H           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNA1H (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1H
        Transcription CREB pathway

    1 BioSystems Pathway for CACNA1H
        Corticotropin-releasing hormone

    1 Reactome Pathway for CACNA1H
        NCAM1 interactions

    2 PharmGKB Pathways for CACNA1H
        Antiarrhythmic Pathway, Pharmacodynamics
    Celecoxib Pathway, Pharmacodynamics

    3 Kegg Pathways  (Kegg details for CACNA1H):
        MAPK signaling pathway
    Calcium signaling pathway
    Circadian entrainment

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CACNA1H
    Interactions:

        GeneGlobe Interaction Network for CACNA1H

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CACNA1H (O951802, 3 ENSP000003341984) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNG2P597683, ENSP000003344484I2D: score=1 STRING: ENSP00000334448
    KCNMA1Q127913, ENSP000002866274I2D: score=3 STRING: ENSP00000286627
    KDM5BQ9UGL13, ENSP000003562344I2D: score=1 STRING: ENSP00000356234
    KCND2Q9NZV83I2D: score=1 
    KCNIP3Q9Y2W73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9670923
    GO:0006811ion transport ----
    GO:0006936muscle contraction TAS9670923
    GO:0007411axon guidance TAS--
    GO:0007517muscle organ development NAS9670923

    Find genes that share ontologies with CACNA1H           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for CACNA1H available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    1 HMDB Compound for CACNA1H    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10 DrugBank Compounds for CACNA1H    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 17762320 14704463 19557119 14965331 18433351 20001433 15511691 19948168 20502722
    Mibefradil-- 116644-53-2targetinhibitor9670923 17190903 14993472 15498818 9375939 16899990 15562257 9481612
    Flunarizine(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)52468-60-7targetinhibitor19582593 17139284 11784784 11752352 17016423
    AmiodaroneAmiodarona [INN-Spanish] (see all 5)1951-25-3targetinhibitor20221978 1281221
    Bepridil-- 64706-54-3targetinhibitor1281221 7565636
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    FelodipineDl-Felodipine (see all 4)72509-76-3targetinhibitor18974361 1281221
    Isradipine(+/-)-Isradipine (see all 5)75695-93-1targetinhibitor18974361 1281221
    Nifedipine-- 21829-25-4targetinhibitor16899990
    NitrendipineNitrendipin (see all 3)39562-70-4targetinhibitor18974361

    5 IUPHAR Ligands for CACNA1H (Cav3.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    mibefradil
    Pore BlockerAntagonist6.810991994
    anandamide
    Pore BlockerAntagonist6.511742980
    SB209712
    Channel blockerNone6.5--
    kurtoxin
    Channel blockerNone6.5--
    Ni2+
    Pore BlockerAntagonist-4.9 - -5.210585925

    1 Novoseek inferred chemical compound relationship for CACNA1H gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 55.5 10 16883519 (3), 15852375 (1), 16565161 (1), 12200855 (1) (see all 7)



    Find genes that share compounds with CACNA1H           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CACNA1H gene (2 alternative transcripts): 
    NM_001005407.1  NM_021098.2  

    Unigene Cluster for CACNA1H:

    Calcium channel, voltage-dependent, T type, alpha 1H subunit
    Hs.459642  [show with all ESTs]
    Unigene Representative Sequence: NM_021098
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000348261(uc002cks.3 uc002cku.3) ENST00000565831 ENST00000564954
    ENST00000569953 ENST00000564231 ENST00000569107 ENST00000562079 ENST00000564927
    ENST00000358590(uc002ckt.3 uc010brj.3 uc002ckv.3)
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    Additional mRNA sequence: 

    AF051946.3 AF070604.1 AF073931.1 AJ420779.1 AK074965.1 DQ363526.1 DQ363527.1 DQ363528.1 
    DQ363529.1 

    11 DOTS entries:

    DT.100880849  DT.106240  DT.120674752  DT.120674763  DT.120674768  DT.95090623  DT.92423332  DT.95163477 
    DT.95322222  DT.95210133  DT.95329487 

    Selected AceView cDNA sequences (see all 69):

    BE552396 AA788598 AI167745 BM554380 AA776500 BM127741 BI964022 AI874207 
    AW473156 BU857411 BM127990 AW439335 BG396000 AW517011 AA503882 BM264453 
    BE552091 BI439093 BU860434 AA779225 CD630638 CK824813 AK074965 AI201132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1H (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                  -                                                                                                         
    SP2:                                                                                                  -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                  -                                                                                                         

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for CACNA1H

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CACNA1H expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CACNA1H Expression
    About this image


    CACNA1H expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     NULL (Cardiovascular System)    fully expand to see all 2 entries
             Floating colonies of cardiomyocytes
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Floating colonies of cardiomyocytes
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced E15 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced E15 cells
    CACNA1H Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA1H Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459642

    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
    Tissue specificity: Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific

        Custom PCR Arrays for CACNA1H
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACNA1H

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CACNA1H gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1h1 , 5 calcium channel, voltage-dependent, T type, alpha 1H more1, 5 83.21(n)1
    85.36(a)1
      17 (12.53 cM)5
    582261  NM_021415.41  NP_067390.41 
     253742855 
    chicken
    (Gallus gallus)
    Aves CACNA1H1 calcium channel, voltage-dependent, T type, alpha 1H more 73.33(n)
    75.67(a)
      416526  XM_414830.4  XP_414830.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004948941 voltage-dependent T-type calcium channel subunit alpha-1H-like 68.45(n)
    71.09(a)
      100494894  XM_002932474.2  XP_002932520.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5608751 voltage-dependent T-type calcium channel subunit alpha-1H-like 64.36(n)
    64.32(a)
      560875  XM_003198149.2  XP_003198197.2 
    worm
    (Caenorhabditis elegans)
    Secernentea cca-13 Skeletal muscle calcium channel alpha-1
    subunit
    58(a)   X(7884813-7896426)   --


    ENSEMBL Gene Tree for CACNA1H (if available)
    TreeFam Gene Tree for CACNA1H (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNA1H gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1F2  CACNA1G2  SCN8A2  
    SCN10A2  SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  SCN11A2  SCN4A2  SCN1A2  
    13 SIMAP similar genes for CACNA1H using alignment to 11 protein entries:     CAC1H_HUMAN (see all proteins):
    CACNA1D    CACNA1S    CACNA1G    CACNA1C    CACNA1B    CACNA1I
    SCN5A    SCN1A    SCN4A    SCN8A    TPCN1    SCN3A
    CACNA1A

    Find genes that share paralogs with CACNA1H           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNA1H (see all 3579)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0459414
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459412 P L mis40--------
    VAR_0459514
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459512 G S mis40--------
    VAR_0459454
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459452 A V mis40--------
    VAR_0459384
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459382 C S mis40--------
    VAR_0459474
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459472 G S mis40--------
    VAR_0459444
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459442 R Q mis40--------
    VAR_0459394
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459392 G S mis40--------
    VAR_0459354
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459352 F L mis40--------
    VAR_0459504
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459502 V M mis40--------
    VAR_0459364
    Epilepsy, childhood absence 6 (ECA6)4--see VAR_0459362 E K mis40--------

    HapMap Linkage Disequilibrium report for CACNA1H (1203241 - 1271772 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CACNA1H (see all 45):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2037799CNV Deletion18987734
    esv2750304CNV Deletion23290073
    esv2750298CNV Deletion23290073
    esv2750301CNV Deletion23290073
    dgv358e201CNV Deletion23290073
    esv2750303CNV Deletion23290073
    esv2663962CNV Deletion23128226
    esv2750299CNV Deletion23290073
    esv2422427CNV Duplication17116639
    esv1043406CNV Insertion17803354

    Human Gene Mutation Database (HGMD): CACNA1H
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNA1H
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA1H

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 607904   
    OMIM disorders: 611942  
    UniProtKB/Swiss-Prot: CAC1H_HUMAN, O95180
  • Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942]: A disorder characterized by recurring generalized
    seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise
    diffusely and simultaneously from both hemispheres of the brain. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Epilepsy, childhood absence 6 (ECA6) [MIM:611942]: A subtype of idiopathic generalized epilepsy
    characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral,
    synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence
    seizures may either remit or persist into adulthood. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry

  • 7 diseases for CACNA1H:    
    About MalaCards
    epilepsy, childhood absence, susceptibility to, 6    epilepsy, idiopathic generalized 6    childhood absence epilepsy    myopathy, myofibrillar, 6
    epilepsy, childhood absence, susceptibility to, 2    timothy syndrome    juvenile absence epilepsy

    3 diseases from the University of Copenhagen DISEASES database for CACNA1H:
    Juvenile absence epilepsy     Idiopathic generalized epilepsy     Timothy syndrome

    Find genes that share disorders with CACNA1H           About GenesLikeMe

    4 Novoseek inferred disease relationships for CACNA1H gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    childhood absence epilepsy 94.1 7 12891677 (3), 17215393 (1), 16565161 (1), 15888660 (1) (see all 5)
    epilepsy, idiopathic generalized 85.9 6 15852375 (2), 16565161 (2), 17696120 (1), 19903827 (1)
    absence seizures 59.8 1 17215393 (1)
    arrhythmia 17.6 1 15888660 (1)

    Genetic Association Database (GAD): CACNA1H
    Human Genome Epidemiology (HuGE) Navigator: CACNA1H (9 documents)

    Export disorders for CACNA1H gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CACNA1H gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with CACNA1H)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. (PubMed id 9670923)1, 2, 3, 7, 9 Cribbs L.L.... Perez-Reyes E. (Circ. Res. 1998)
    2. Association between genetic variation of CACNA1H and childhood absence epilepsy. (PubMed id 12891677)1, 2, 4, 9 Chen Y.... Wu X. (Ann. Neurol. 2003)
    3. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. (PubMed id 17696120)1, 4, 9 Heron S.E....Zamponi G.W. (Ann. Neurol. 2007)
    4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    5. A genome-wide association study of hypertension and blood pressure in African Americans. (PubMed id 19609347)1, 4 Adeyemo A....Rotimi C. (PLoS Genet. 2009)
    6. Integrative predictive model of coronary artery calcification in atherosclerosis. (PubMed id 19948975)1, 4 McGeachie M....Ramoni M.F. (Circulation 2009)
    7. Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. (PubMed id 17156077)1, 4 Liang J....Wu X. (Ann. Hum. Genet. 2007)
    8. CACNA1H mutations in autism spectrum disorders. (PubMed id 16754686)1, 4 Splawski I....Keating M.T. (J. Biol. Chem. 2006)
    9. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PubMed id 16382099)1, 3 Catterall W.A....Striessnig J. (Pharmacol. Rev. 2005)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 8912 HGNC: 1395 AceView: CACNA1H Ensembl:ENSG00000196557 euGenes: HUgn8912
    ECgene: CACNA1H Kegg: 8912 H-InvDB: CACNA1H

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CACNA1H Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CACNA1H gene:
    Search GeneIP for patents involving CACNA1H

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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